ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4023A>C (p.Ser1341=) (rs276174840)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113261 SCV000578774 likely benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Invitae RCV000859476 SCV000072346 likely benign not provided 2019-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000217669 SCV000275643 likely benign Hereditary cancer-predisposing syndrome 2015-11-20 criteria provided, single submitter clinical testing
Color RCV000217669 SCV000683595 likely benign Hereditary cancer-predisposing syndrome 2016-12-21 criteria provided, single submitter clinical testing
Mendelics RCV000044333 SCV000838794 likely benign Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000113261 SCV001139079 likely benign Breast-ovarian cancer, familial 2 2019-05-28 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113261 SCV000146357 uncertain significance Breast-ovarian cancer, familial 2 2009-06-25 no assertion criteria provided clinical testing

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